نتایج جستجو برای: lipoid proteinosis
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Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report case of lipoid in 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness voice, accelerated photoaging appearance, enlarged and erythematous tongue restricted movement widespread dermatoses. Biopsy oral mucosa revealed Periodic acid-Schiff (PAS)-positiv...
The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to c...
Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Althou...
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